Biliary Anomalies in VACTERL Syndrome: A Case Report

被引:0
作者
Mohamed, Fatema [1 ]
Basavaraju, Umesh [1 ]
机构
[1] Aberdeen Royal Infirm Hosp, Gastroenterol & Hepatol, Aberdeen, Scotland
关键词
biliary tree anomalies; hepatobiliary; biliary; vacterl; vacterl syndrome;
D O I
10.7759/cureus.66700
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The VACTERL/VATER association is a rare congenital disorder characterized by the presence of at least three of its main components: vertebral defects, anal atresia, cardiovascular anomalies, tracheoesophageal fistulas, esophageal atresia, renal anomalies, and limb defects. The exact cause of the VACTERL association is not fully understood. Most cases occur randomly. However, some research suggests that genetics and environmental factors may play a role. In addition to the core components of the VACTERL association, affected individuals may also have anomalies beyond the typical features. Biliary anomalies, although not classically included in the definition, have been documented in individuals with VACTERL syndrome, adding more complexity to this condition. Patients with biliary anomalies may present with jaundice, abdominal pain, or poor growth. The presence of biliary anomalies in individuals with VACTERL syndrome can have an impact on their care and outcomes. Detecting and treating these anomalies usually involves a multidisciplinary team. Timely identification and proper management of these bile-related issues are essential to prevent complications such as cholangitis.
引用
收藏
页数:5
相关论文
共 7 条
  • [1] Inheritance of the VATER/VACTERL association
    Bartels, Enrika
    Jenetzky, Ekkehart
    Solomon, Benjamin D.
    Ludwig, Michael
    Schmiedeke, Eberhard
    Grasshoff-Derr, Sabine
    Schmidt, Dominik
    Maerzheuser, Stefanie
    Hosie, Stuart
    Weih, Sandra
    Holland-Cunz, Stefan
    Palta, Markus
    Leonhardt, Johannes
    Schaefer, Mattias
    Kujath, Christina
    Rissmann, Anke
    Noethen, Markus M.
    Reutter, Heiko
    Zwink, Nadine
    [J]. PEDIATRIC SURGERY INTERNATIONAL, 2012, 28 (07) : 681 - 685
  • [2] Hwang KJ, 2023, E-Da Healthcare Group Medical Library, V10, P31, DOI [10.6966/EDMJ.20230910(3).0006, DOI 10.6966/EDMJ.20230910(3).0006]
  • [3] Lugo-Vicente Humberto, 2009, Bol Asoc Med P R, V101, P56
  • [4] VACTERL/VATER Association
    Solomon, Benjamin D.
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2011, 6
  • [5] Maternal risk associated with theVACTERLassociation: A case-control study
    van de Putte, Romy
    de Walle, Hermien E. K.
    van Hooijdonk, Kirsten J. M.
    de Blaauw, Ivo
    Marcelis, Carlo L. M.
    van Heijst, Arno
    Giltay, Jacques C.
    Renkema, Kirsten Y.
    Broens, Paul M. A.
    Brosens, Erwin
    Sloots, Cornelius E. J.
    Bergman, Jorieke E. H.
    Roeleveld, Nel
    van Rooij, Iris A. L. M.
    [J]. BIRTH DEFECTS RESEARCH, 2020, 112 (18): : 1495 - 1504
  • [6] A case report of intrahepatic bile duct confluence anomalies in VACTERL syndrome
    Yoon, Yoonsun
    Kim, Kyungju
    Yeom, Suk Keu
    Lee, JeeHyun
    Lee, Yoon
    [J]. MEDICINE, 2018, 97 (39)
  • [7] Heterozygous FGF8 Mutations in Patients Presenting Cryptorchidism and Multiple VATER/VACTERL Features without Limb Anomalies
    Zeidler, Claudia
    Woelfle, Joachim
    Draaken, Markus
    Mughal, Sadaf S.
    Grosse, Greta
    Hilger, Alina C.
    Dworschak, Gabriel C.
    Boemers, Thomas M.
    Jenetzky, Ekkehart
    Zwink, Nadine
    Lacher, Martin
    Schmidt, Dominik
    Schmiedeke, Eberhard
    Grasshoff-Derr, Sabine
    Maerzheuser, Stefanie
    Holland-Cunz, Stefan
    Schaefer, Mattias
    Bartels, Enrika
    Keppler, Kathleen
    Palta, Markus
    Leonhardt, Johannes
    Kujath, Christina
    Rissmann, Anke
    Noethen, Markus M.
    Reutter, Heiko
    Ludwig, Michael
    [J]. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2014, 100 (10) : 750 - 759